De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports
This study confirmed that genetic testing provides a basis for the diagnosis of children with abnormal electroencephalogram and brain magnetic resonance imaging findings and developmental delay, and provides data supporting a future phenotype-genotype correlation study.
Authors
- Hongwei Zhang (ORCID: https://orcid.org/0000-0001-8838-7753)
- Ying Ren (ORCID: https://orcid.org/0009-0006-5229-505X)
- Wandong Hu (ORCID: https://orcid.org/0009-0005-9432-7905)
- Zaifen Gao
- Jianguo Shi (ORCID: https://orcid.org/0000-0002-9147-7212)
- Yong Liu (ORCID: https://orcid.org/0000-0003-1289-7196)
Institutions
- Shandong University (CN)
- Jinan Maternity And Care Hospital (CN)
- Fourth People’s Hospital of Jinan (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-01-10
- DOI
- https://doi.org/10.1097/md.0000000000041236
- Citations
- 1
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 1.47